ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) (rs776188923)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461342 SCV000553893 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2016-11-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 431 of the SDHA protein (p.Ile431Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. The frequency data for this variant (rs776188923) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with an SDHA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.